Wilson’s Disease

Wilson’s Disease is a rare type of genetic disorder where excessive amounts of copper accumulate in the body, particularly in the liver and brain. This buildup can be toxic and cause life-threatening damage if left untreated. Early diagnosis and lifelong care under a hepatologist or liver specialist are essential for managing the disease and preventing complications.

What Is Wilson’s Disease?

Wilson’s Disease is an inherited autosomal recessive condition (ATP7B) that affects children. Typically, the liver filters out excess copper and excretes it through bile. In people with Wilson’s Disease, the liver cannot remove copper properly, leading to accumulation in the liver, brain, eyes, and other organs.

Who is at Risk?

• People with a family history of Wilson’s Disease  
• Typically diagnosed between ages 5 and 35, but can appear at any age  
• Both males and females are equally affected

Symptoms of Wilson’s Disease

The symptoms vary and may develop gradually:
Liver-related symptoms:

• Jaundice (yellowing of skin and eyes)  
• Fatigue  
• Abdominal swelling (ascites)  
• Enlarged liver or spleen  
• Easy bruising or bleeding

Neurological and psychiatric symptoms:

• Tremors or poor coordination  
• Slurred speech  
• Personality changes  
• Ocular signs:
• Kayser-Fleischer rings – brownish rings around the cornea due to copper deposits (detectable during an eye exam)

How Wilson’s Disease is Diagnosed?

• Blood Tests: These check for low ceruloplasmin 
• Urine Test: 24-hour copper excretion is typically elevated  
• Liver Biopsy: Measures copper concentration in liver tissue  
• Genetic Testing: Confirms mutations in the ATP7B gene  
• Eye Exam: To detect Kayser-Fleischer rings

Treatment Options for Wilson’s Disease

Wilson’s Disease is treatable, especially when caught early. 

1. Chelation Therapy 
Medications like Penicillamine or Tridentine bind copper and help eliminate it through urine. They are prescribed and monitored by a liver specialist.

2. Zinc Therapy
Zinc interferes with copper absorption in the intestine and is often used for long-term maintenance.

3. Dietary Modifications
A hepatologist may recommend avoiding foods high in copper:

• Shellfish  
• Liver
• Mushrooms
• Chocolate
• Nuts  

4. Liver Transplant  
In cases of acute liver failure or end-stage liver disease, a liver transplant may be needed. A liver specialist will assess the patient’s condition and refer them for surgery if necessary.

Living with Wilson’s Disease

Lifelong medication is essential to keep copper levels in check.  
Regular follow-ups with a hepatologist help monitor liver function and adjust treatments.  
Family screening is strongly recommended for early detection in asymptomatic siblings or relatives.

When to See a Hepatologist or Liver Specialist

You should consult a hepatologist or liver specialist if you:

• Have a family history of Wilson’s Disease  
• Experience persistent liver-related symptoms without a known cause  
• Have unexplained neurological symptoms  
• Notice psychiatric changes along with other systemic signs